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  3. GATA6
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Congenital hypothyroidism

Gene: GATA6

Amber List (moderate evidence)
GATA6 (GATA binding protein 6)
EnsemblGeneIds (GRCh38): ENSG00000141448
EnsemblGeneIds (GRCh37): ENSG00000141448
OMIM: 601656, Gene2Phenotype
GATA6 is in 14 panels

1 review

Chirag Patel (Genetic Health Queensland)

I don't know

2 cases with congenital hypothyroidism so expansion of phenotype
Sources: Literature
Created: 3 Feb 2021, 4:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pancreatic agenesis and congenital heart defects, OMIM# 600001

Publications

Created: 3 Feb 2021, 4:34 a.m.

Panel version: 0.17

History Filter Activity

3 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gata6 has been classified as Amber List (Moderate Evidence).

3 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: gata6 has been classified as Amber List (Moderate Evidence).

3 Feb 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: GATA6 was added gene: GATA6 was added to Congenital hypothyroidism. Sources: Literature Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATA6 were set to PMID: 31271559, 32207556 Phenotypes for gene: GATA6 were set to Pancreatic agenesis and congenital heart defects, OMIM# 600001 Review for gene: GATA6 was set to AMBER